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Comment
. 2014 Nov 6;124(19):2901-3.
doi: 10.1182/blood-2014-09-597765.

Identifying mutant pathways in the histiocytoses

H Miles Prince  1
Affiliations
Free article
Comment

Identifying mutant pathways in the histiocytoses

H Miles Prince. Blood. .
Free article

Abstract

In this issue of Blood, the findings of Chakraborty et al and Emile et al support a model in which the mitogen-activated protein kinase (MAPK) and PI3K/AKT pathways are critical in the pathogenesis of 2 of the most common histiocytoses—Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD)—whereas their respective mutational profiles demonstrate important similarities and differences.

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  • Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease.
    Emile JF, Diamond EL, Hélias-Rodzewicz Z, Cohen-Aubart F, Charlotte F, Hyman DM, Kim E, Rampal R, Patel M, Ganzel C, Aumann S, Faucher G, Le Gall C, Leroy K, Colombat M, Kahn JE, Trad S, Nizard P, Donadieu J, Taly V, Amoura Z, Abdel-Wahab O, Haroche J. Emile JF, et al. Blood. 2014 Nov 6;124(19):3016-9. doi: 10.1182/blood-2014-04-570937. Epub 2014 Aug 22. Blood. 2014. PMID: 25150293 Free PMC article.
  • Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis.
    Chakraborty R, Hampton OA, Shen X, Simko SJ, Shih A, Abhyankar H, Lim KP, Covington KR, Trevino L, Dewal N, Muzny DM, Doddapaneni H, Hu J, Wang L, Lupo PJ, Hicks MJ, Bonilla DL, Dwyer KC, Berres ML, Poulikakos PI, Merad M, McClain KL, Wheeler DA, Allen CE, Parsons DW. Chakraborty R, et al. Blood. 2014 Nov 6;124(19):3007-15. doi: 10.1182/blood-2014-05-577825. Epub 2014 Sep 8. Blood. 2014. PMID: 25202140 Free PMC article.

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